Huntington's disease (HD) is a devastating and progressive neurodegenerative disorder characterized by chorea, dystonia, cognitive impairment, and behavioral changes. There is no effective treatment available. At the present time, it is possible to determine if a subject will develop Huntington's Disease, e.g. by determining whether or not the subject has a particular mutation at the huntingtin (htt) gene 3.
It is important for subjects with the Huntington's disease mutation to be able to predict the age of onset in their particular case, as knowing this information provides crucial information relevant to major life decisions such as education, healthcare, and family planning. While the severity of the mutation at the htt3 gene can provide some guidance as to the age of onset, current predictors are not reliable. At least one third of the variation of the age of onset of HD is not currently predictable, nor is the etiological source understood.
This gap in the understanding of the mechanisms of HD is also a hinderance to drug development, as none of the known mutations present in HD subjects is correlated with HD pathogenesis and striatal degeneration.